Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional	78
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27		23
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency		57
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040282 - Frequent	9
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome	.	9
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation	.	94
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25		27
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2		257
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent	184
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41		1
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.	45
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D		173
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.	47
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent	47
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	.	46
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent	46
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42		13
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	NCF4 CL E G H	4689	7662	OMIM:613960	Chronic granulomatous disease 3, autosomal recessive		37
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	NME5 CL E G H	8382	7853	OMIM:620032
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6		50
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.	49
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent	49
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS		200
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	RSPH1 CL E G H	89765	12371	OMIM:615481	Ciliary dyskinesia, primary, 24		31
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11		58
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		67
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		61
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		57
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.	97
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61		2
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28		45
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040281 - Very frequent	89
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID		1
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I		5
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I		17
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I		3
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040281 - Very frequent	271
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome		131
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040281 - Very frequent
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002788	HP:0002788	Recurrent upper respiratory tract infections	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0002788	HP:0031949	Recurrent bacterial upper respiratory tract infections	1	CL E G H
HP:0002788	HP:0011108	Recurrent sinusitis	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0002788	HP:0011108	Recurrent sinusitis	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0002788	HP:0200117	Recurrent upper and lower respiratory tract infections	1	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2	.	58
HP:0002788	HP:0100776	Recurrent pharyngitis	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0002788	HP:0011108	Recurrent sinusitis	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0002788	HP:0002837	Recurrent bronchitis	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0002788	HP:0011108	Recurrent sinusitis	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0002788	HP:0011108	Recurrent sinusitis	1	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0002788	HP:0011108	Recurrent sinusitis	1	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27	.	23
HP:0002788	HP:0002837	Recurrent bronchitis	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	38
HP:0002788	HP:0011108	Recurrent sinusitis	1	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0002788	HP:0002837	Recurrent bronchitis	1	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0002788	HP:0011108	Recurrent sinusitis	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0002788	HP:0002837	Recurrent bronchitis	1	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive	.	9
HP:0002788	HP:0002837	Recurrent bronchitis	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.	6
HP:0002788	HP:0002837	Recurrent bronchitis	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0002788	HP:0011108	Recurrent sinusitis	1	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0002788	HP:0011108	Recurrent sinusitis	1	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0002788	HP:0011108	Recurrent sinusitis	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0002788	HP:0011108	Recurrent sinusitis	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0002788	HP:0002837	Recurrent bronchitis	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0002788	HP:0002837	Recurrent bronchitis	1	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0002788	HP:0011108	Recurrent sinusitis	1	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0002788	HP:0200117	Recurrent upper and lower respiratory tract infections	1	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040282 - Frequent	94
HP:0002788	HP:0002837	Recurrent bronchitis	1	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.	116
HP:0002788	HP:0011108	Recurrent sinusitis	1	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0002788	HP:0011108	Recurrent sinusitis	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0002788	HP:0011108	Recurrent sinusitis	1	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0002788	HP:0011108	Recurrent sinusitis	1	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.	27
HP:0002788	HP:0011108	Recurrent sinusitis	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.	62
HP:0002788	HP:0011108	Recurrent sinusitis	1	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked	.
HP:0002788	HP:0011108	Recurrent sinusitis	1	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0002788	HP:0002837	Recurrent bronchitis	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0002788	HP:0011108	Recurrent sinusitis	1	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0002788	HP:0011108	Recurrent sinusitis	1	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0002788	HP:0002837	Recurrent bronchitis	1	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0002788	HP:0011108	Recurrent sinusitis	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0002788	HP:0011108	Recurrent sinusitis	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0002788	HP:0002837	Recurrent bronchitis	1	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2		257
HP:0002788	HP:0011108	Recurrent sinusitis	1	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0002788	HP:0033166	Recurrent viral upper respiratory tract infections	1	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0002788	HP:0002837	Recurrent bronchitis	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002788	HP:0011108	Recurrent sinusitis	1	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41		1
HP:0002788	HP:0002837	Recurrent bronchitis	1	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0002788	HP:0200117	Recurrent upper and lower respiratory tract infections	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0002788	HP:0002837	Recurrent bronchitis	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0002788	HP:0100776	Recurrent pharyngitis	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0002788	HP:0100776	Recurrent pharyngitis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0002788	HP:0011108	Recurrent sinusitis	1	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5	.	21
HP:0002788	HP:0002837	Recurrent bronchitis	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0002788	HP:0002837	Recurrent bronchitis	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0002788	HP:0011108	Recurrent sinusitis	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0002788	HP:0011108	Recurrent sinusitis	1	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002788	HP:0002837	Recurrent bronchitis	1	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002788	HP:0033166	Recurrent viral upper respiratory tract infections	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0002788	HP:0011108	Recurrent sinusitis	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0002788	HP:0011108	Recurrent sinusitis	1	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0002788	HP:0002837	Recurrent bronchitis	1	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0002788	HP:0011108	Recurrent sinusitis	1	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0002788	HP:0002837	Recurrent bronchitis	1	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0002788	HP:0011108	Recurrent sinusitis	1	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0002788	HP:0002837	Recurrent bronchitis	1	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0002788	HP:0002837	Recurrent bronchitis	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	4
HP:0002788	HP:0011108	Recurrent sinusitis	1	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0002788	HP:0011108	Recurrent sinusitis	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0002788	HP:0011108	Recurrent sinusitis	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002788	HP:0002837	Recurrent bronchitis	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0002788	HP:0011108	Recurrent sinusitis	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0002788	HP:0011108	Recurrent sinusitis	1	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42		13
HP:0002788	HP:0200117	Recurrent upper and lower respiratory tract infections	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0002788	HP:0011108	Recurrent sinusitis	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0002788	HP:0200117	Recurrent upper and lower respiratory tract infections	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0002788	HP:0011108	Recurrent sinusitis	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent	33
HP:0002788	HP:0002837	Recurrent bronchitis	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0002788	HP:0002837	Recurrent bronchitis	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0002788	HP:0002837	Recurrent bronchitis	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0002788	HP:0011108	Recurrent sinusitis	1	NCF4 CL E G H	4689	7662	OMIM:613960	Chronic granulomatous disease 3, autosomal recessive	.	37
HP:0002788	HP:0011108	Recurrent sinusitis	1	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0002788	HP:0002837	Recurrent bronchitis	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	7
HP:0002788	HP:0011108	Recurrent sinusitis	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0002788	HP:0002837	Recurrent bronchitis	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	11
HP:0002788	HP:0011108	Recurrent sinusitis	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0002788	HP:0002837	Recurrent bronchitis	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0002788	HP:0100776	Recurrent pharyngitis	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0002788	HP:0011108	Recurrent sinusitis	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002788	HP:0033166	Recurrent viral upper respiratory tract infections	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002788	HP:0011108	Recurrent sinusitis	1	NME5 CL E G H	8382	7853	OMIM:620032
HP:0002788	HP:0011108	Recurrent sinusitis	1	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6	.	50
HP:0002788	HP:0011108	Recurrent sinusitis	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0002788	HP:0011108	Recurrent sinusitis	1	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002788	HP:0100776	Recurrent pharyngitis	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0002788	HP:0011108	Recurrent sinusitis	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0002788	HP:0011108	Recurrent sinusitis	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002788	HP:0002837	Recurrent bronchitis	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0002788	HP:0011108	Recurrent sinusitis	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0002788	HP:0100776	Recurrent pharyngitis	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0002788	HP:0011108	Recurrent sinusitis	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0002788	HP:0200117	Recurrent upper and lower respiratory tract infections	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0002788	HP:0200117	Recurrent upper and lower respiratory tract infections	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0002788	HP:0011108	Recurrent sinusitis	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040282 - Frequent	7
HP:0002788	HP:0002837	Recurrent bronchitis	1	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS		200
HP:0002788	HP:0011108	Recurrent sinusitis	1	RSPH1 CL E G H	89765	12371	OMIM:615481	Ciliary dyskinesia, primary, 24	.	31
HP:0002788	HP:0011108	Recurrent sinusitis	1	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11		58
HP:0002788	HP:0011108	Recurrent sinusitis	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0002788	HP:0200117	Recurrent upper and lower respiratory tract infections	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent	67
HP:0002788	HP:0200117	Recurrent upper and lower respiratory tract infections	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent	61
HP:0002788	HP:0200117	Recurrent upper and lower respiratory tract infections	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent	57
HP:0002788	HP:0100776	Recurrent pharyngitis	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	37
HP:0002788	HP:0011108	Recurrent sinusitis	1	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.	2
HP:0002788	HP:0100776	Recurrent pharyngitis	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0002788	HP:0002837	Recurrent bronchitis	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0002788	HP:0011108	Recurrent sinusitis	1	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.	45
HP:0002788	HP:0011108	Recurrent sinusitis	1	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0002788	HP:0011108	Recurrent sinusitis	1	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0002788	HP:0011108	Recurrent sinusitis	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0002788	HP:0002837	Recurrent bronchitis	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0002788	HP:0002837	Recurrent bronchitis	1	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I	.	5
HP:0002788	HP:0002837	Recurrent bronchitis	1	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I	.	17
HP:0002788	HP:0002837	Recurrent bronchitis	1	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I	.	3
HP:0002788	HP:0011108	Recurrent sinusitis	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0002788	HP:0011108	Recurrent sinusitis	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0002788	HP:0002837	Recurrent bronchitis	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0002788	HP:0011108	Recurrent sinusitis	1	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002788	HP:0002837	Recurrent bronchitis	1	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002788	HP:0002837	Recurrent bronchitis	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	12
HP:0002788	HP:0002837	Recurrent bronchitis	1	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0002788	HP:0011108	Recurrent sinusitis	1	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0002788	HP:0011108	Recurrent sinusitis	1	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0002788	HP:0100776	Recurrent pharyngitis	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional	131
HP:0002788	HP:0002837	Recurrent bronchitis	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0002788	HP:0011108	Recurrent sinusitis	1	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0002788	HP:0200117	Recurrent upper and lower respiratory tract infections	1	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5	.	44
HP:0002788	HP:0011108	Recurrent sinusitis	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0002788	HP:0200117	Recurrent upper and lower respiratory tract infections	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0002788	HP:0011108	Recurrent sinusitis	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0002788	HP:0100776	Recurrent pharyngitis	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	81
HP:0002788	HP:0200117	Recurrent upper and lower respiratory tract infections	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0002788	HP:0011108	Recurrent sinusitis	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.	20
HP:0002788	HP:0100501	Recurrent bronchiolitis	2	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.	257
HP:0002788	HP:0100501	Recurrent bronchiolitis	2	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76